Unraveling Dandy-Walker Malformation: A Comprehensive Literature Review and Case Insight

Abstract

Dandy-Walker spectrum disorder (DWSD) is a congenital abnormality of the brain, consisting typically of partial or complete hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and enlargement of the posterior fossa. Approximately 1 in 10,000 to 30,000 live births is affected by this typically early-onset neurological condition, which commonly presents with hydrocephalus, irritability, and poor motor coordination. Usually, the diagnosis is confirmed by anatomic features typical of computed tomography or magnetic resonance imaging (MRI). Management has been largely hydrocephalus-oriented, usually by VP shunting and multidisciplinary follow-up for neurological and developmental improvement in the long run. Herein is reported a case with a 5-month-old male presenting with DWSD, which has been documented in this paper along with his clinical presentation, imaging findings, and, most importantly, the response to the cerebrospinal fluid (CSF) diversion following the shunt. This case highlights the importance of early intervention, early comprehensive imaging, and a multidisciplinary approach, including genetic counseling, in optimizing the quality of life and managing complex developmental needs associated with DWSD.